Integrated Genetics/Laboratory Corporation of America (Laboratory Corporation of America), IG

General information

Integrated Genetics/Laboratory Corporation of America, IG
Laboratory Corporation of America
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 18507

Gene

GeneSubmissionsLast Updated
A2ML1128Dec 31, 2020
ABCA150Dec 31, 2020
ABCA43Apr 29, 2020
ABCB41Dec 31, 2020
ABCC857Dec 2, 2020
ABCC936Nov 10, 2020
ABCD115Aug 6, 2020
ABRAXAS156Dec 2, 2020
ACAD91Oct 6, 2020
ACADM25Dec 31, 2020
ACADVL27Dec 2, 2020
ACAT112Jul 9, 2020
ACER32Mar 6, 2020
ACSF32Dec 31, 2020
ACSL42Sep 9, 2020
ACTA28Nov 10, 2020
ACTA2-AS13Nov 10, 2020
ACTC126Nov 10, 2020
ACTN229Dec 31, 2020
ACYP11Jan 25, 2018
ADA19Dec 31, 2020
ADA21Dec 2, 2020
ADAMTS225Apr 29, 2020
ADAMTSL21Apr 29, 2020
ADAT32Dec 31, 2020
ADGRG61Jul 1, 2020
ADGRV11Mar 6, 2020
ADRA2B1Mar 6, 2020
AFF22Mar 6, 2020
AFF41Aug 6, 2020
AGA3Dec 31, 2020
AGL30Oct 6, 2020
AGXT20Dec 2, 2020
AICDA5Jul 9, 2020
AIFM12Jul 1, 2020
AIRE26Dec 31, 2020
AKAP950Dec 31, 2020
AKT31Mar 6, 2020
ALDH3A215Sep 9, 2020
ALDOB16Dec 2, 2020
ALG111Aug 18, 2011
ALG122Oct 6, 2020
ALG131Mar 6, 2020
ALG22May 13, 2020
ALK29Dec 2, 2020
ALMS1115Dec 31, 2020
ALPL24Nov 10, 2020
AMT3Aug 6, 2020
ANK290Dec 31, 2020
ANKRD111Jan 25, 2018
ANKRD111Mar 6, 2020
ANOS11Oct 6, 2020
AOPEP22Oct 6, 2020
AP4B11Mar 6, 2020
APBB12Sep 24, 2019
APC408Dec 31, 2020
APOA17Dec 2, 2020
APOA1-AS5Dec 2, 2020
APOA211Dec 31, 2020
APOA58Jan 25, 2018
APOB12Sep 9, 2020
APOC34Aug 6, 2020
AQP26Nov 17, 2015
ARID1A1Oct 6, 2020
ARSA31Dec 31, 2020
ARSB13Nov 10, 2020
ARSL1Apr 29, 2020
ARX3Mar 6, 2020
ASAH11Apr 29, 2020
ASB111Sep 9, 2020
ASL13Jul 9, 2020
ASPA12Apr 29, 2020
ASPM3Mar 6, 2020
ASS122Aug 6, 2020
ASXL12Apr 24, 2019
ATL11Mar 6, 2020
ATM608Dec 31, 2020
ATN11Apr 29, 2020
ATP13A21Dec 2, 2020
ATP1A31Mar 6, 2020
ATP1B17Jul 9, 2020
ATP5MK1Oct 6, 2020
ATP7A1May 13, 2020
ATP7B207Dec 31, 2020
ATP8A22Mar 6, 2020
ATP8B11Apr 29, 2020
ATR11Jan 25, 2018
ATRX5Dec 31, 2020
AVIL1Dec 31, 2020
AVPR215Nov 17, 2015
AXDND18Jul 1, 2020
AXIN226Aug 6, 2020
BAG322Dec 31, 2020
BARD1136Dec 31, 2020
BBS116Sep 9, 2020
BBS1023May 13, 2020
BBS223Sep 9, 2020
BCHE3Jul 1, 2020
BCKDHA11Nov 10, 2020
BCKDHB17Aug 6, 2020
BCOR1Apr 24, 2019
BCORL12May 13, 2020
BCS1L5Nov 10, 2020
BIVM-ERCC55Mar 6, 2020
BLM54Dec 31, 2020
BMPR1A56Dec 31, 2020
BRAF74Dec 31, 2020
BRCA11093Dec 31, 2020
BRCA21864Dec 31, 2020
BRIP1175Dec 31, 2020
BTD1Mar 6, 2020
BTK37Apr 29, 2020
C11orf65216Dec 31, 2020
C12orf432Nov 10, 2020
C8orf371Apr 29, 2020
CACNA1A1Apr 29, 2020
CACNA1C53Dec 2, 2020
CACNA1C-AS122Sep 9, 2020
CACNA1C-AS21Jan 25, 2018
CACNA1E1Mar 6, 2020
CACNA1H2Dec 2, 2020
CACNA1S8Mar 6, 2020
CACNB217Nov 10, 2020
CACNG21Apr 29, 2020
CALR311Jan 25, 2018
CAMK41Jul 1, 2020
CASQ212Apr 29, 2020
CASR32Dec 31, 2020
CAV39Dec 2, 2020
CBL47Dec 31, 2020
CBS39Dec 31, 2020
CC2D2A1Dec 2, 2020
CCBE11Mar 6, 2020
CCDC1071Mar 6, 2020
CCDC401Jan 25, 2018
CD3D1Aug 18, 2011
CD3E7Apr 24, 2019
CD408Nov 10, 2020
CD40LG10Nov 10, 2020
CDC736Mar 6, 2020
CDH1179Dec 31, 2020
CDK131May 13, 2020
CDK432Dec 2, 2020
CDK5RAP11Mar 6, 2020
CDKN2A47Dec 31, 2020
CEL2Apr 29, 2020
CENPF2Mar 6, 2020
CEP2901Dec 31, 2020
CEP85L1Mar 6, 2020
CFTR636Dec 31, 2020
CFTR-AS159Dec 31, 2020
CHD41Apr 29, 2020
CHD721Mar 6, 2020
CHD81Mar 6, 2020
CHEK13Jan 25, 2018
CHEK2148Dec 31, 2020
CHPT12Mar 6, 2020
CHRNA11Dec 31, 2020
CHST141Mar 6, 2020
CIC4Apr 29, 2020
CLCN11Mar 6, 2020
CLCN41Apr 29, 2020
CLCN71May 13, 2020
CLN311Dec 31, 2020
CLN57Apr 29, 2020
CLN81May 13, 2020
CLRN14Apr 24, 2019
CLRN1-AS11Jan 25, 2018
CNTN21Dec 31, 2020
CNTNAP51Nov 10, 2020
COBL1May 13, 2020
COL11A11Apr 29, 2020
COL12A11Mar 6, 2020
COL1A140Dec 31, 2020
COL1A231Mar 6, 2020
COL2A12Apr 24, 2019
COL3A172Dec 31, 2020
COL4A21Mar 6, 2020
COL4A324Nov 10, 2020
COL4A53Dec 31, 2020
COL4A61Mar 6, 2020
COL5A123Jul 1, 2020
COL5A213Mar 6, 2020
COL6A12Apr 29, 2020
COL7A13Mar 6, 2020
COL9A21Jul 1, 2020
COL9A31Apr 29, 2020
COQ91May 22, 2020
COX153Dec 2, 2020
CPLANE13Apr 29, 2020
CPS116Oct 6, 2020
CPT215Nov 10, 2020
CRB21Dec 31, 2020
CRBN1Mar 6, 2020
CREBBP1Mar 6, 2020
CRYBB11Oct 6, 2020
CSF2RA2Mar 6, 2020
CSRP36Sep 9, 2020
CTCF2Nov 10, 2020
CTF15Apr 29, 2020
CTNS17Nov 10, 2020
CTSA6Oct 6, 2020
CTSB1Dec 31, 2020
CUX21Mar 6, 2020
CYBB24Apr 29, 2020
CYP11B117Oct 18, 2019
CYP1B12Dec 31, 2020
CYP21A27Dec 2, 2020
D2HGDH1Dec 2, 2020
DCLRE1B1Mar 6, 2020
DCLRE1C5Sep 24, 2019
DDX3X1May 13, 2020
DEAF11Mar 6, 2020
DEPDC52Apr 29, 2020
DES13Nov 10, 2020
DES-LCR1Nov 10, 2020
DGKE2Dec 31, 2020
DHCR734Dec 31, 2020
DHDDS1Jan 25, 2018
DIAPH11Dec 2, 2020
DICER11Apr 29, 2020
DLD4Dec 31, 2020
DLG41Jan 25, 2018
DLL31Apr 24, 2019
DLL41Oct 6, 2020
DMD105Dec 31, 2020
DNA21Mar 6, 2020
DNAAF31Aug 18, 2011
DNAH72Mar 6, 2020
DNAJC193Apr 29, 2020
DNASE1L11Aug 18, 2011
DOCK32Sep 9, 2020
DOK71Apr 29, 2020
DPM21Nov 10, 2020
DPP61Dec 2, 2020
DPYD15Dec 31, 2020
DPYD-AS12Sep 9, 2020
DSC242Dec 2, 2020
DSCAS1Sep 9, 2020
DSG238Dec 31, 2020
DSG2-AS114Oct 6, 2020
DSP116Dec 31, 2020
DTNA20Sep 9, 2020
DUOX22Apr 24, 2019
DYNC1H11Dec 2, 2020
DYRK1A4Dec 2, 2020
EDNRB1Mar 6, 2020
EDNRB-AS11Mar 6, 2020
EFEMP25Jan 25, 2018
EFHC11Mar 6, 2020
EFNB11May 13, 2020
EFNB21Mar 6, 2020
EHMT11Dec 31, 2020
EIF2B22Sep 9, 2020
ELN1Dec 2, 2020
ELP112Mar 6, 2020
EMD8Dec 31, 2020
EP3001Dec 2, 2020
EPCAM5Oct 22, 2020
ERCC22Jul 1, 2020
ERCC31Apr 29, 2020
ERCC55Mar 6, 2020
ERCC61Dec 31, 2020
ERCC82Dec 31, 2020
ERMARD1Apr 24, 2019
ETFDH1Mar 6, 2020
ETHE18Dec 31, 2020
EXT11Apr 24, 2019
EYA414Dec 31, 2020
EYS2Oct 6, 2020
FAH16Nov 10, 2020
FAM20A4Mar 6, 2020
FANCC40Dec 2, 2020
FANCI2Mar 6, 2020
FAT42May 13, 2020
FBN1455Dec 31, 2020
FBN218Jan 25, 2018
FBXL37Apr 29, 2020
FCN31Nov 10, 2020
FCSK2Apr 29, 2020
FERMT31Mar 6, 2020
FGD12Apr 29, 2020
FGF232Aug 18, 2011
FGFR11Apr 29, 2020
FH9Jul 9, 2020
FKRP1May 13, 2020
FKTN17Dec 2, 2020
FLCN13Dec 31, 2020
FOXP13Sep 9, 2020
FOXP21Apr 24, 2019
FOXRED13Oct 6, 2020
FRMPD41Nov 10, 2020
FUCA16Oct 6, 2020
G6PC122Jul 1, 2020
GAA123Dec 2, 2020
GABRQ1Apr 29, 2020
GAL3ST41Nov 10, 2020
GALC31Nov 10, 2020
GALNS30Dec 31, 2020
GALT96Dec 31, 2020
GAMT7Apr 29, 2020
GAREM211Aug 6, 2020
GATAD16Apr 29, 2020
GBA62Dec 2, 2020
GBA22Dec 31, 2020
GBE11May 13, 2020
GCDH20Mar 6, 2020
GCK113Dec 31, 2020
GDF51Jul 1, 2020
GDI11Sep 9, 2020
GEMIN51Mar 6, 2020
GH-LCR2Apr 29, 2020
GH11Aug 18, 2011
GHRHR4Aug 18, 2011
GINS32Mar 6, 2020
GJB11Jan 25, 2018
GJB289Dec 31, 2020
GLA141Dec 31, 2020
GLB122Dec 2, 2020
GLDC20Aug 6, 2020
GLI11Apr 29, 2020
GLI21Mar 6, 2020
GML17Oct 18, 2019
GNAI31Apr 29, 2020
GNPTAB30Oct 6, 2020
GNS1Jan 25, 2018
GP91Jul 1, 2020
GPAA11Mar 6, 2020
GPC36Apr 24, 2019
GPD1L6Jul 9, 2020
GREB1L1Apr 29, 2020
GRHPR7Mar 6, 2020
GRIN2A1Mar 6, 2020
GRIN2B1Mar 6, 2020
GRXCR11Dec 2, 2020
GSS6Apr 29, 2020
GUF12Dec 31, 2020
GUSB8Aug 6, 2020
HADHA25Nov 10, 2020
HADHB2Jul 9, 2020
HBB255Dec 31, 2020
HCFC11Jul 1, 2020
HDAC21Dec 31, 2020
HDAC83Apr 29, 2020
HEPACAM1Mar 6, 2020
HEXA52Dec 31, 2020
HEXB22Dec 2, 2020
HFE1Apr 24, 2019
HFE-AS11Apr 24, 2019
HGSNAT19Nov 10, 2020
HLCS7Sep 24, 2019
HMGCL7Dec 2, 2020
HNF1A46Dec 31, 2020
HNF1B22Nov 10, 2020
HNF4A31Dec 2, 2020
HOPX4Mar 6, 2020
HPS12Nov 10, 2020
HRAS32Dec 2, 2020
HSD11B21Aug 18, 2011
HSD17B49Oct 6, 2020
HSD3B21Jul 22, 2020
HSPG23Jul 1, 2020
IDS8Mar 6, 2020
IDUA44Dec 2, 2020
IFNGR111Mar 6, 2020
IFNGR24Mar 6, 2020
IFT801Dec 31, 2020
IGHMBP21Apr 24, 2019
IKBKG9Aug 6, 2020
IL2RG14Oct 6, 2020
IL4I12Mar 6, 2020
IL7R9Dec 2, 2020
INF21Dec 31, 2020
INS5Nov 17, 2015
INS-IGF25Nov 17, 2015
INSR1Dec 2, 2020
IRF2BPL1Dec 2, 2020
IRF81Mar 6, 2020
ITPR11Apr 24, 2019
JAG11Apr 29, 2020
JAK318May 13, 2020
JUP41Dec 2, 2020
KBTBD131Dec 31, 2020
KCNC11Mar 6, 2020
KCNE16Aug 6, 2020
KCNE25Mar 6, 2020
KCNH259Dec 2, 2020
KCNJ114Aug 18, 2011
KCNJ26Apr 29, 2020
KCNK91Mar 6, 2020
KCNQ154Dec 31, 2020
KCNQ1-AS13Mar 6, 2020
KCNQ1OT15Mar 6, 2020
KDM3B1Mar 6, 2020
KDM5C1Dec 31, 2020
KDM6A1Dec 2, 2020
KIAA05861Mar 6, 2020
KIF141Mar 6, 2020
KIF1A1Oct 6, 2020
KIF5A1Apr 29, 2020
KIF71Jul 1, 2020
KIRREL21Mar 6, 2020
KLLN16May 13, 2020
KMT2C2Nov 10, 2020
KMT2E1Mar 6, 2020
KMT5B1Apr 29, 2020
KRAS23Dec 31, 2020
KRT141Mar 6, 2020
L1CAM4Oct 6, 2020
LAMA22Mar 6, 2020
LAMA35Mar 6, 2020
LAMA51Aug 6, 2020
LAMB322Dec 2, 2020
LAMC26Dec 31, 2020
LAMP25Mar 6, 2020
LCT2Apr 29, 2020
LDB330Dec 2, 2020
LDLR188Dec 31, 2020
LDLR-AS12Sep 9, 2020
LDLRAP113Dec 31, 2020
LEPR3Aug 18, 2011
LHCGR3Aug 18, 2011
LIG326Dec 31, 2020
LMNA30Dec 31, 2020
LOC1005073464Jul 1, 2020
LOC1014482025Jul 1, 2020
LOC10192705516Dec 31, 2020
LOC1019273185Nov 17, 2015
LOC10192817426Nov 10, 2020
LOC10272405821Aug 6, 2020
LOC1053783111Apr 24, 2019
LOC1060501024Mar 6, 2020
LOC106099062164Dec 31, 2020
LOC10662798159Dec 2, 2020
LOC1067366141Aug 18, 2011
LOC1067808007Dec 2, 2020
LOC10679983312Sep 24, 2019
LOC107133510253Dec 31, 2020
LOC10730334043Dec 31, 2020
LOC1073033432Jul 1, 2020
LOC1076524453Aug 18, 2011
LOC1079822344Jul 1, 2020
LOC1084918252Jan 25, 2018
LOC1094614841Apr 29, 2020
LOC11000631994Nov 10, 2020
LOC1100112163Mar 6, 2020
LOC11012126911Nov 10, 2020
LOC1106314171Dec 2, 2020
LOC1116744631Sep 24, 2019
LOC11167447268Dec 31, 2020
LOC11167447523Mar 6, 2020
LOC11167447721Dec 2, 2020
LOC1136338751Jan 25, 2018
LOC1136338773Apr 24, 2019
LOC1136641065Apr 29, 2020
LOC1139399445Nov 10, 2020
LOC1148278276Dec 2, 2020
LOC1148278501Sep 9, 2020
LOC1148278514Sep 9, 2020
LOX7Jan 25, 2018
LPL13Sep 24, 2019
LRP53Nov 17, 2015
LRPPRC2Oct 6, 2020
LRRC5632Dec 2, 2020
LZTR1104Dec 31, 2020
MACF11Nov 10, 2020
MAGEL21Aug 6, 2020
MAN2B121Dec 31, 2020
MANBA4Mar 6, 2020
MAP2K131Dec 31, 2020
MAP2K279Dec 2, 2020
MAPRE21Apr 24, 2019
MAX2Jan 25, 2018
MC2R1Dec 2, 2020
MC4R8Sep 24, 2019
MCOLN115Aug 6, 2020
MCPH11Mar 6, 2020
MEA11Apr 24, 2019
MECP276Dec 31, 2020
MED122May 13, 2020
MED13L1Mar 6, 2020
MEFV107Dec 31, 2020
MEGF81May 13, 2020
MEN127Dec 31, 2020
MET13Apr 29, 2020
METTL51Apr 29, 2020
MFF-DT22Nov 10, 2020
MHRT9May 13, 2020
MICU21Apr 29, 2020
MID11Apr 24, 2019
MIR36061Jan 25, 2018
MIR3936HG1Jan 25, 2018
MITF5Sep 24, 2019
MKS11Apr 24, 2019
MLH1254Dec 31, 2020
MMAA7Mar 6, 2020
MMAB8Nov 10, 2020
MMACHC31Dec 2, 2020
MMUT39Dec 2, 2020
MN12Oct 6, 2020
MPL7Nov 10, 2020
MPZ1Jan 25, 2018
MRAS9Oct 6, 2020
MRE1132Mar 6, 2020
MSH2338Dec 31, 2020
MSH6458Dec 31, 2020
MTM11Dec 2, 2020
MTTP14Oct 6, 2020
MUS811Jan 25, 2018
MUTYH126Dec 31, 2020
MVK1Jan 25, 2018
MYBPC384Dec 2, 2020
MYH1187Dec 31, 2020
MYH141Dec 2, 2020
MYH683Dec 31, 2020
MYH769Dec 31, 2020
MYL215Dec 31, 2020
MYL39Oct 6, 2020
MYLK76Dec 31, 2020
MYLK-AS18Dec 2, 2020
MYLK215Dec 2, 2020
MYO1F1Mar 6, 2020
MYO7A1Dec 2, 2020
MYOT1Mar 6, 2020
MYOZ24Jan 25, 2018
MYRF1Apr 29, 2020
MYT1L1Mar 6, 2020
NADSYN11Jan 25, 2018
NAGA2Jul 1, 2020
NAGLU18Dec 31, 2020
NBN130Dec 31, 2020
NCOR21Aug 6, 2020
NDE131Dec 31, 2020
NDST11Dec 31, 2020
NDUFAF25Dec 31, 2020
NDUFS22Mar 6, 2020
NDUFS45Dec 2, 2020
NDUFS71Apr 24, 2019
NDUFV12Apr 24, 2019
NEB99Sep 9, 2020
NEDD4L1Mar 6, 2020
NEU13Apr 29, 2020
NEXMIF1Dec 31, 2020
NF1115Dec 31, 2020
NF27Mar 6, 2020
NFIB1Aug 6, 2020
NFIX2Mar 6, 2020
NFKB21Apr 29, 2020
NKX2-11Mar 6, 2020
NKX2-510Mar 6, 2020
NLGN32Apr 29, 2020
NME71Nov 20, 2015
NOG1Mar 6, 2020
NOS1AP11Mar 6, 2020
NOTCH11Jul 9, 2020
NOTCH31Apr 29, 2020
NPC127Oct 6, 2020
NPC24Dec 31, 2020
NPHP41Mar 6, 2020
NPHS139Nov 10, 2020
NPHS220Oct 6, 2020
NPPA6Dec 2, 2020
NPPA-AS16Dec 2, 2020
NR0B12Aug 18, 2011
NR2F11Mar 6, 2020
NRAS8Oct 6, 2020
NRXN11Mar 6, 2020
NSD11Apr 24, 2019
NSDHL1Mar 6, 2020
NSUN22Apr 29, 2020
NSUN614Oct 6, 2020
NUP2141Mar 6, 2020
NUP622Mar 6, 2020
OBSL11Mar 6, 2020
OTC17Nov 10, 2020
OTOF1Oct 6, 2020
OTUD6B2Mar 6, 2020
PACS11Mar 6, 2020
PAH137Dec 31, 2020
PALB2232Dec 31, 2020
PANK21Dec 2, 2020
PCCA19Dec 31, 2020
PCCB21Dec 31, 2020
PCDH1520Jul 1, 2020
PCSK964Dec 31, 2020
PDHA15May 13, 2020
PDX114Sep 24, 2019
PEX131Oct 6, 2020
PEX104Apr 29, 2020
PEX1210Dec 31, 2020
PEX25Apr 24, 2019
PEX265Mar 6, 2020
PEX622Dec 31, 2020
PEX78Nov 10, 2020
PHEX7Aug 18, 2011
PHF81May 13, 2020
PHGDH5Apr 24, 2019
PHKA21Apr 24, 2019
PHKA2-AS11Apr 24, 2019
PHOX2B7Mar 6, 2020
PHOX2B-AS11Jan 25, 2018
PIEZO21Oct 6, 2020
PIGW2Dec 31, 2020
PIK3R11Mar 6, 2020
PKHD1133Dec 31, 2020
PKP267Dec 31, 2020
PLD11Dec 31, 2020
PLEKHG21Apr 24, 2019
PLN1Mar 6, 2020
PLUT7Sep 24, 2019
PMM239Dec 2, 2020
PMP221Mar 6, 2020
PMS2319Dec 31, 2020
PNKP1Apr 29, 2020
PNPLA82Oct 6, 2020
POGZ1Dec 2, 2020
POLD153Aug 6, 2020
POLE85Dec 2, 2020
POLR3B1Mar 6, 2020
POMGNT12Dec 2, 2020
PON29Dec 31, 2020
POU1F11Aug 18, 2011
PPM1D1Mar 6, 2020
PPP2R5D1Apr 24, 2019
PPT112Dec 31, 2020
PRF13Aug 6, 2020
PRKAG223Dec 2, 2020
PRKAR1A38Dec 31, 2020
PRKCG1Apr 29, 2020
PRMT71Jul 1, 2020
PROP14Aug 18, 2011
PRSS135Dec 31, 2020
PSEN11Jul 1, 2020
PTCH124Dec 2, 2020
PTCHD1-AS2Aug 18, 2011
PTEN74Dec 31, 2020
PTPN1193Dec 31, 2020
PUF601Mar 6, 2020
PUM11Mar 6, 2020
PURA1Mar 6, 2020
RAB33A2Jul 1, 2020
RAD211Nov 10, 2020
RAD5055Dec 31, 2020
RAD51C84Dec 31, 2020
RAD51D76Dec 2, 2020
RAD51L3-RFFL76Dec 2, 2020
RAF166Dec 31, 2020
RAG112May 13, 2020
RAG212Dec 31, 2020
RAPSN1Aug 6, 2020
RASA245Dec 31, 2020
RB116Dec 2, 2020
RBM2023Dec 31, 2020
RELN2Apr 29, 2020
RET20Dec 31, 2020
RIF130Apr 29, 2020
RIMS11Nov 10, 2020
RIT117Sep 9, 2020
RMRP41Dec 31, 2020
RNASEH2B1Mar 6, 2020
RNASEH2C1Apr 29, 2020
RPH3A1Mar 6, 2020
RPIA2Mar 6, 2020
RPL36A-HNRNPH2141Dec 31, 2020
RPS6KA31Aug 6, 2020
RRAS26Dec 31, 2020
RTEL115Sep 24, 2019
RTEL1-TNFRSF6B15Sep 24, 2019
RTN21Apr 24, 2019
RUNX21Mar 6, 2020
RYR19Jul 1, 2020
RYR2191Dec 31, 2020
SACS10Dec 31, 2020
SBF12Apr 24, 2019
SCAMP42Dec 31, 2020
SCN1A35Dec 31, 2020
SCN1A-AS11Dec 31, 2020
SCN1B15Nov 10, 2020
SCN2A2Dec 31, 2020
SCN4A1Apr 29, 2020
SCN4B7Sep 9, 2020
SCN5A119Dec 31, 2020
SCN9A1Dec 31, 2020
SDHAF21Nov 10, 2020
SDHB13Dec 31, 2020
SDHC2Jan 25, 2018
SDHD8Apr 29, 2020
SERPINC11Mar 6, 2020
SETD22Mar 6, 2020
SETD51Aug 6, 2020
SF3B11Apr 29, 2020
SFTA31Mar 6, 2020
SGCA2Mar 6, 2020
SGCD8May 13, 2020
SGSH24Jul 1, 2020
SH2D1A3Apr 24, 2019
SHOC223Dec 2, 2020
SHOX6Mar 6, 2020
SIM11Dec 2, 2020
SLC12A67Dec 31, 2020
SLC17A513Dec 2, 2020
SLC22A535Oct 6, 2020
SLC25A12Mar 6, 2020
SLC25A151Oct 6, 2020
SLC25A208Jul 1, 2020
SLC26A113Apr 29, 2020
SLC26A111Jul 1, 2020
SLC26A217Nov 10, 2020
SLC26A41Apr 29, 2020
SLC2A1017Dec 31, 2020
SLC34A38Jan 25, 2018
SLC35A31Jan 25, 2018
SLC37A418Dec 31, 2020
SLC39A51Oct 6, 2020
SLC6A191Apr 29, 2020
SLC6A81Apr 29, 2020
SLITRK11Mar 6, 2020
SMAD39Dec 2, 2020
SMAD451Dec 2, 2020
SMARCA11Mar 6, 2020
SMARCA22Dec 31, 2020
SMARCA41Apr 29, 2020
SMARCB15Dec 2, 2020
SMC31Apr 24, 2019
SMN139Dec 2, 2020
SMN21Apr 29, 2020
SMPD151Dec 31, 2020
SNAPC56Dec 31, 2020
SNHG141Apr 29, 2020
SNTA117Dec 31, 2020
SOS1113Dec 2, 2020
SOS270Dec 2, 2020
SOX111Mar 6, 2020
SPAST1Mar 6, 2020
SPATA2212Apr 29, 2020
SPECC1L1Dec 2, 2020
SPECC1L-ADORA2A1Dec 2, 2020
SPINK124Dec 2, 2020
SPR1Mar 6, 2020
SPRED131Dec 2, 2020
SPTAN11Apr 24, 2019
SPTBN21Mar 6, 2020
SRCAP2Oct 6, 2020
SRFBP11Jan 25, 2018
SSUH22Mar 6, 2020
STAG11Apr 24, 2019
STAR1Aug 18, 2011
STAT327Nov 10, 2020
STK1196Dec 2, 2020
STON1-GTF2A1L3Aug 18, 2011
STYXL21Mar 6, 2020
SUFU8Apr 24, 2019
SUMF110Dec 2, 2020
SUOX2Apr 29, 2020
SURF127Oct 6, 2020
SYCE23Mar 6, 2020
SYNE13Mar 6, 2020
SYNGAP11Mar 6, 2020
TAB21Apr 29, 2020
TAF11Mar 6, 2020
TAOK11Mar 6, 2020
TARID2Apr 29, 2020
TAZ4Nov 10, 2020
TBCD1Mar 6, 2020
TBCK2Mar 6, 2020
TBX31Apr 29, 2020
TBX58Mar 6, 2020
TCAP8Nov 10, 2020
TCF41May 13, 2020
TCIRG14Aug 6, 2020
TGFB210Dec 31, 2020
TGFB37Dec 2, 2020
TGFBR122Dec 31, 2020
TGFBR234Dec 31, 2020
TGM11Mar 6, 2020
TH2Dec 31, 2020
TH2-LCR5Dec 31, 2020
TH2LCRR7Dec 31, 2020
TLL11Dec 31, 2020
TMCO11Dec 2, 2020
TMEM1272Aug 6, 2020
TMEM2166Dec 2, 2020
TMEM4328Sep 9, 2020
TMEM50B1Aug 18, 2011
TMEM672Sep 9, 2020
TMLHE1Mar 6, 2020
TMPO16Dec 31, 2020
TMPO-AS13Nov 10, 2020
TMPPE2Apr 24, 2019
TMPRSS32Aug 6, 2020
TNC2Dec 2, 2020
TNFRSF13B14Sep 9, 2020
TNNC14Apr 24, 2019
TNNI317May 13, 2020
TNNT11Aug 18, 2011
TNNT224Apr 29, 2020
TNXB1Nov 17, 2015
TOE12Mar 6, 2020
TOP2B1Mar 6, 2020
TOPORS1Oct 6, 2020
TP5386Dec 31, 2020
TPM16Mar 6, 2020
TPO2Mar 6, 2020
TPP113Apr 29, 2020
TRAPPC91Apr 29, 2020
TRB35Dec 31, 2020
TRIM59-IFT801Dec 31, 2020
TRIO1Mar 6, 2020
TRNT11Mar 6, 2020
TSC119Apr 29, 2020
TSC235Apr 29, 2020
TSEN542Mar 6, 2020
TSPAN12Dec 2, 2020
TSPAN3114Aug 6, 2020
TTC7A2Dec 31, 2020
TTN622Dec 31, 2020
TTN-AS1312Dec 31, 2020
TTPA9May 13, 2020
TTR38Mar 6, 2020
TUBB4A1Apr 24, 2019
TUBB61Mar 6, 2020
TULP11Aug 6, 2020
UBE3A1Apr 29, 2020
UBR11Mar 6, 2020
UNC802Mar 6, 2020
UNG4Mar 6, 2020
USH2A9Dec 2, 2020
USH2A-AS11Dec 2, 2020
USP9X1Jul 1, 2020
VCL20Oct 6, 2020
VHL77Dec 31, 2020
VPS13B23Aug 6, 2020
VPS13C2Jul 1, 2020
WAS20Dec 31, 2020
WASHC42Oct 6, 2020
WDFY31Mar 6, 2020
WDPCP1Apr 29, 2020
WDR111Mar 6, 2020
WDR262Apr 29, 2020
WDR451Mar 6, 2020
WDR622Apr 29, 2020
WT17Jul 1, 2020
WWOX1Mar 6, 2020
XPA8Sep 9, 2020
XPC22Dec 31, 2020
ZAP706Dec 2, 2020
ZDHHC2410Sep 9, 2020
ZDHHC91Mar 6, 2020
ZFPM11Oct 6, 2020
ZNF7111May 13, 2020
ZNHIT31Dec 2, 2020

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21Aug 18, 2011
Abetalipoproteinaemia5Oct 6, 2020
Achondrogenesis type II2Apr 24, 2019
Adrenoleukodystrophy12May 13, 2020
Agenesis of the corpus callosum with peripheral neuropathy3Mar 6, 2020
Aicardi Goutieres syndrome1Mar 6, 2020
Alkaline ceramidase 3 deficiency1Mar 6, 2020
Alpha thalassemia-X-linked intellectual disability syndrome2Nov 10, 2020
Alpha-N-acetylgalactosaminidase deficiency type 21Jul 1, 2020
Alport syndrome 1, X-linked recessive3Dec 31, 2020
Alport syndrome, autosomal recessive13Nov 10, 2020
Alstrom syndrome3Dec 2, 2020
Alzheimer disease, type 31Jul 1, 2020
Amyloid Cardiomyopathy, Transthyretin-related1Aug 18, 2011
Amyloidogenic transthyretin amyloidosis20Mar 6, 2020
Antithrombin III deficiency1Mar 6, 2020
Apparent mineralocorticoid excess1Aug 18, 2011
Argininosuccinate lyase deficiency11Jul 9, 2020
Arrhythmogenic right ventricular cardiomyopathy9Sep 24, 2019
Arthrogryposis, mental retardation, and seizures1Jan 25, 2018
Aspartylglucosaminuria3Dec 31, 2020
Asphyxiating thoracic dystrophy 21Dec 31, 2020
Ataxia-telangiectasia syndrome102Dec 31, 2020
Ataxia-telangiectasia-like disorder1Mar 6, 2020
Atrial septal defect1Nov 20, 2015
Atrial septal defect 7 with or without atrioventricular conduction defects2Aug 18, 2011
Atrial septal defect-atrioventricular conduction defects syndrome1Apr 11, 2018
Autosomal dominant epilepsy8Dec 31, 2020
Autosomal dominant hypophosphatemic rickets2Aug 18, 2011
Autosomal dominant isolated somatotropin deficiency1Aug 18, 2011
Autosomal recessive DOPA responsive dystonia1Dec 31, 2020
Autosomal recessive polycystic kidney disease56Dec 31, 2020
BH4-deficient hyperphenylalaninemia A3Dec 31, 2020
Bardet-Biedl syndrome34Sep 9, 2020
Bardet-Biedl syndrome 105Mar 6, 2020
Bardet-Biedl syndrome 24Apr 24, 2019
Bernard Soulier syndrome1Jul 1, 2020
Beta thalassemia intermedia6Oct 6, 2020
Beta thalassemia major4Oct 22, 2020
Beta-D-mannosidosis4Mar 6, 2020
Beta-thalassemia dominant1Apr 29, 2020
Beta-thalassemia, dominant inclusion body type1Aug 18, 2011
Bifunctional peroxisomal enzyme deficiency8Oct 6, 2020
Biotinidase deficiency1Mar 6, 2020
Birt-Hogg-Dubé Syndrome2May 13, 2020
Bloom syndrome23Dec 31, 2020
Bohring-Opitz syndrome2Apr 24, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 6, 2020
Brugada syndrome (shorter-than-normal QT interval)7Nov 10, 2020
CC2D2A-Related Disorders1Dec 2, 2020
CHARGE association2Apr 24, 2019
Canavan Disease, Familial Form12Apr 29, 2020
Cardiac arrhythmia53Dec 31, 2020
Cardiac valvular defect, developmental1Dec 31, 2020
Cardio-facio-cutaneous syndrome8Dec 31, 2020
Cardiomyopathy108Dec 31, 2020
Cardiovascular phenotype35Sep 24, 2019
Carney complex1Dec 2, 2020
Carnitine acylcarnitine translocase deficiency6Jul 1, 2020
Carnitine palmitoyltransferase II deficiency10Sep 9, 2020
Catecholaminergic polymorphic ventricular tachycardia1Apr 29, 2020
Ceroid lipofuscinosis neuronal 23Apr 29, 2020
Charcot-Marie-Tooth disease type 41Apr 24, 2019
Charcot-Marie-Tooth disease, axonal, type 2S1Apr 24, 2019
Charlevoix-Saguenay spastic ataxia8Dec 31, 2020
Cholesterol monooxygenase (side-chain cleaving) deficiency1Aug 18, 2011
Chronic granulomatous disease, X-linked18Apr 29, 2020
Citrullinemia type I16May 13, 2020
Cleidocranial dysostosis1Mar 6, 2020
Cobalamin C disease24Nov 10, 2020
Cockayne syndrome2Dec 31, 2020
Coenzyme Q10 deficiency, primary, 51May 22, 2020
Coffin-Lowry syndrome1Aug 6, 2020
Coffin-Siris syndrome1Dec 2, 2020
Cohen syndrome18Aug 6, 2020
Combined cellular and humoral immune defects with granulomas1Nov 20, 2015
Combined deficiency of sialidase AND beta galactosidase2Oct 6, 2020
Combined malonic and methylmalonic aciduria2Dec 31, 2020
Common variable agammaglobulinemia1Jul 1, 2020
Common variable immunodeficiency1Apr 29, 2020
Common variable immunodeficiency 23Aug 18, 2011
Congenital adrenal hyperplasia23Dec 2, 2020
Congenital adrenal hypoplasia, X-linked2Aug 18, 2011
Congenital amegakaryocytic thrombocytopenia7Nov 10, 2020
Congenital bilateral aplasia of vas deferens from CFTR mutation12Sep 9, 2020
Congenital disorder of glycosylation type 1u1Nov 10, 2020
Congenital disorder of glycosylation, type Ia33Dec 2, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 13, 2020
Congenital heart disease2Nov 20, 2015
Congenital heart disease (variable)3Mar 6, 2020
Congenital hyperammonemia, type I9Oct 6, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2Oct 6, 2020
Congenital muscular dystrophy, LMNA-related1Nov 20, 2015
Congenital myasthenic syndrome1Apr 29, 2020
Congenital myotonia, autosomal recessive form1Mar 6, 2020
Cornelia de Lange syndrome 52Mar 6, 2020
Costello syndrome4Dec 2, 2020
Cowden syndrome8Apr 29, 2020
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1Dec 2, 2020
Craniofrontonasal syndrome1May 13, 2020
Cutaneous malignant melanoma 81Sep 24, 2019
Cystic fibrosis213Dec 31, 2020
Cystinosis12Nov 10, 2020
D-2-hydroxyglutaric aciduria 11Dec 2, 2020
Deafness, autosomal recessive 1A47Dec 31, 2020
Deafness, autosomal recessive 251Dec 2, 2020
Deafness, autosomal recessive 82Aug 6, 2020
Deafness, autosomal recessive 91Oct 6, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase50Dec 31, 2020
Deficiency of acetyl-CoA acetyltransferase9Jul 9, 2020
Deficiency of alpha-mannosidase15Dec 31, 2020
Deficiency of butyrylcholine esterase3Jul 1, 2020
Deficiency of guanidinoacetate methyltransferase6Apr 29, 2020
Deficiency of hydroxymethylglutaryl-CoA lyase7Dec 2, 2020
Deficiency of iodide peroxidase2Mar 6, 2020
Deficiency of ribose-5-phosphate isomerase2Mar 6, 2020
Dihydropyrimidine dehydrogenase deficiency10Dec 31, 2020
Dilated cardiomyopathy 1B6Dec 31, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Mar 6, 2020
Dyskeratosis congenita8Sep 24, 2019
Dystrophic epidermolysis bullosa1Mar 6, 2020
Dystrophinopathies40Dec 31, 2020
Early-onset coronary artery disease3Jul 9, 2020
Ectodermal dysplasia and immunodeficiency 17Jan 25, 2018
Ectopia lentis, isolated, autosomal dominant1Aug 18, 2011
Ehlers-Danlos syndrome dermatosparaxis type1Jan 25, 2018
Ehlers-Danlos syndrome, musculocontractural type1Mar 6, 2020
Ehlers-Danlos syndrome, type 46Dec 2, 2020
Emery-Dreifuss muscular dystrophy1Dec 31, 2020
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Mar 6, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation1Mar 6, 2020
Erythrocytosis, familial, 21Dec 2, 2020
Ethylmalonic encephalopathy6Dec 31, 2020
Fabry disease109Dec 31, 2020
Familial Mediterranean fever26May 13, 2020
Familial X-linked hypophosphatemic vitamin D refractory rickets7Aug 18, 2011
Familial aortopathy26Jul 9, 2020
Familial cancer of breast39May 13, 2020
Familial dysautonomia2Jan 25, 2018
Familial hemophagocytic lymphohistiocytosis3Aug 6, 2020
Familial hypercholesterolemia97Dec 31, 2020
Familial hypercholesterolemia 119Nov 20, 2015
Familial hyperinsulinism21Dec 2, 2020
Familial hypocalciuric hypercalcemia24Aug 18, 2011
Familial hypoplastic, glomerulocystic kidney20Aug 18, 2011
Familial isolated arrhythmogenic right ventricular dysplasia12Oct 6, 2020
Familial isolated deficiency of vitamin E6Mar 6, 2020
Familial isolated hypoparathyroidism2Aug 18, 2011
Familial multiple polyposis syndrome37Oct 6, 2020
Familial thoracic aortic aneurysm and aortic dissection1Mar 6, 2020
Fanconi anemia, complementation group C19Nov 10, 2020
Fanconi anemia, complementation group J2Feb 18, 2020
Finnish congenital nephrotic syndrome27Nov 10, 2020
Fucosidosis5Oct 6, 2020
Fukuyama congenital muscular dystrophy7Oct 6, 2020
Fumarase deficiency1Apr 24, 2019
GM1 gangliosidosis11Oct 6, 2020
GRACILE syndrome3Nov 10, 2020
Galactosylceramide beta-galactosidase deficiency18Nov 10, 2020
Gaucher disease47Dec 2, 2020
Generalized epilepsy with febrile seizures plus3Nov 20, 2015
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1Apr 29, 2020
Glucose-6-phosphate transport defect15Dec 2, 2020
Glutaric aciduria, type 118Mar 6, 2020
Gluthathione synthetase deficiency5Apr 29, 2020
Glycogen storage disease IIIa6Mar 6, 2020
Glycogen storage disease IIIb1Jan 25, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA19Jul 1, 2020
Glycogen storage disease type III20Oct 6, 2020
Glycogen storage disease type IXa11Apr 24, 2019
Glycogen storage disease, type II77Dec 2, 2020
Glycogen storage disease, type IV1May 13, 2020
Gonadotropin-independent familial sexual precocity3Aug 18, 2011
Gorlin syndrome1Dec 2, 2020
Hemochromatosis type 11Apr 24, 2019
Hemoglobin D disease1Mar 6, 2020
Hemoglobinopathy30Aug 6, 2020
Hereditary Paraganglioma-Pheochromocytoma Syndromes7Dec 31, 2020
Hereditary breast and ovarian cancer syndrome1040Dec 31, 2020
Hereditary cancer-predisposing syndrome10Jan 25, 2018
Hereditary diffuse gastric cancer9Apr 29, 2020
Hereditary fructosuria14Dec 2, 2020
Hereditary leiomyomatosis and renal cell cancer1Jul 9, 2020
Hereditary melanoma6Dec 31, 2020
Hereditary nonpolyposis colon cancer118Dec 31, 2020
Hereditary pancreatitis15Dec 31, 2020
Hereditary sensory and autonomic neuropathy type IIC1Oct 6, 2020
Hereditary spastic paraplegia 121Apr 24, 2019
Hereditary spastic paraplegia 3A1Mar 6, 2020
Hermansky-Pudlak syndrome2Nov 10, 2020
Hirschsprung disease 11Aug 18, 2011
Histiocytic medullary reticulosis5May 13, 2020
Holocarboxylase synthetase deficiency7Sep 24, 2019
Holt-Oram syndrome1Mar 6, 2020
Homocystinuria33Dec 31, 2020
Hyper-IgE recurrent infection syndrome 1, autosomal dominant11Aug 18, 2011
Hyper-IgE syndrome3Apr 24, 2019
Hyper-IgM syndrome type 15Nov 10, 2020
Hyper-IgM syndrome type 22Aug 18, 2011
Hyper-IgM syndrome type 53Aug 18, 2011
Hyperimmunoglobulin M syndrome2Mar 6, 2020
Hyperinsulinemic hypoglycemia, familial, 111Apr 29, 2020
Hyperphenylalaninemia, non-pku9Jan 25, 2018
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1Oct 6, 2020
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 6, 2020
Hypophosphatasia18Nov 10, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Mar 6, 2020
IFN-gamma receptor 1 deficiency1Jan 25, 2018
Idiopathic growth hormone deficiency4Aug 18, 2011
Idiopathic nephrotic syndrome15Aug 6, 2020
Incontinentia pigmenti syndrome1Aug 6, 2020
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Mar 6, 2020
Intellectual developmental disorder, autosomal recessive 721Apr 29, 2020
Intellectual disability, autosomal dominant 471Apr 24, 2019
Interferon gamma receptor deficiency6Aug 18, 2011
Joubert syndrome 22Apr 24, 2019
Joubert syndrome 61Sep 9, 2020
Joubert syndrome and related disorders1Mar 6, 2020
Junctional epidermolysis bullosa5Dec 31, 2020
Junctional epidermolysis bullosa gravis of Herlitz15May 13, 2020
Junctional epidermolysis bullosa, non-Herlitz type4Mar 6, 2020
Juvenile polyposis syndrome8Dec 2, 2020
Kleefstra syndrome 11Dec 31, 2020
Kleefstra syndrome 21Mar 6, 2020
L1 syndrome3Oct 6, 2020
Lamellar ichthyosis1Mar 6, 2020
Laminin alpha 2-related dystrophy2Mar 6, 2020
Laryngo-onycho-cutaneous syndrome1Mar 6, 2020
Leber congenital amaurosis1Aug 6, 2020
Legius syndrome1Apr 29, 2020
Leigh syndrome24Dec 2, 2020
Lethal multiple pterygium syndrome1Dec 31, 2020
Leukodystrophy, hypomyelinating, 61Apr 24, 2019
Leukoencephalopathy with vanishing white matter2Sep 9, 2020
Li-Fraumeni syndrome13Dec 2, 2020
Limb-girdle muscular dystrophy, autosomal recessive4Dec 2, 2020
Loeys-Dietz syndrome15Mar 6, 2020
Long QT syndrome31Dec 31, 2020
Long QT syndrome 17Sep 24, 2019
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency15Nov 10, 2020
Lynch syndrome250May 13, 2020
MEN2 phenotype: Unclassified1Jan 25, 2018
MYH-associated polyposis28Dec 2, 2020
MYO7A-Related Disorders1Dec 2, 2020
Macrocephaly, acquired, with impaired intellectual development1Aug 6, 2020
Malignant hyperthermia susceptibility2Jul 1, 2020
Malignant tumor of breast16Dec 31, 2020
Maple syrup urine disease8Oct 6, 2020
Maple syrup urine disease type 1A6Nov 10, 2020
Maple syrup urine disease type 1B12Aug 6, 2020
Maple syrup urine disease, type 33Dec 31, 2020
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections104Dec 31, 2020
Marfan syndrome89Nov 27, 2018
Maturity onset diabetes mellitus in young2Dec 2, 2020
Maturity-onset diabetes of the young type 410Nov 17, 2015
Maturity-onset diabetes of the young type 81Aug 18, 2011
Maturity-onset diabetes of the young, type 123Nov 17, 2015
Maturity-onset diabetes of the young, type 2103Sep 24, 2019
Maturity-onset diabetes of the young, type 341Nov 17, 2015
Meckel syndrome, type 41Dec 31, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency17Nov 10, 2020
Menkes kinky-hair syndrome1May 13, 2020
Mental retardation and distinctive facial features with or without cardiac defects1Mar 6, 2020
Mental retardation with language impairment and with or without autistic features3Sep 9, 2020
Mental retardation, X-linked 1021May 13, 2020
Mental retardation, X-linked 981Dec 31, 2020
Mental retardation, autosomal dominant 211Jul 1, 2020
Mental retardation, autosomal dominant 311Mar 6, 2020
Mental retardation, autosomal dominant 351Apr 24, 2019
Mental retardation, autosomal dominant 61Mar 6, 2020
Mental retardation, autosomal recessive 461Dec 31, 2020
Mental retardation, with or without seizures, ARX-related, X-linked1Mar 6, 2020
Metachromatic leukodystrophy32Dec 31, 2020
Metaphyseal chondrodysplasia, McKusick type39Dec 31, 2020
Methylmalonic acidemia49Dec 2, 2020
Microcephaly, normal intelligence and immunodeficiency14Dec 2, 2020
Mitochondrial complex 1 deficiency, nuclear type 191Oct 6, 2020
Mitochondrial complex 5 (atp synthase) deficiency, nuclear type 61Oct 6, 2020
Mitochondrial trifunctional protein deficiency5Jul 9, 2020
Morquio syndrome15Dec 31, 2020
Mucolipidosis12Oct 6, 2020
Mucolipidosis type II6Mar 6, 2020
Mucolipidosis type IV12Aug 6, 2020
Mucopolysaccharidosis type 129Dec 2, 2020
Mucopolysaccharidosis type 69Nov 10, 2020
Mucopolysaccharidosis type 74Aug 6, 2020
Mucopolysaccharidosis, MPS-II5Apr 24, 2019
Mucopolysaccharidosis, MPS-III-A13Jul 1, 2020
Mucopolysaccharidosis, MPS-III-B13Dec 31, 2020
Mucopolysaccharidosis, MPS-IV-B7Dec 2, 2020
Multiple acyl-CoA dehydrogenase deficiency1Mar 6, 2020
Multiple congenital exostosis1Apr 24, 2019
Multiple endocrine neoplasia, type 122Apr 29, 2020
Multiple endocrine neoplasia, type 2a6May 13, 2020
Multiple sulfatase deficiency7Dec 2, 2020
Nemaline myopathy38Sep 9, 2020
Neonatal diabetes mellitus28Nov 17, 2015
Neonatal severe hyperparathyroidism1Nov 10, 2020
Nephrogenic diabetes insipidus21Nov 17, 2015
Nephronophthisis 41Mar 6, 2020
Nephrotic syndrome, type 71Dec 31, 2020
Neurodegeneration with brain iron accumulation1Dec 2, 2020
Neurodegeneration with brain iron accumulation 51Mar 6, 2020
Neurodevelopmental disorder1Mar 6, 2020
Neurofibromatosis, type 115Dec 31, 2020
Neurofibromatosis, type 22Mar 6, 2020
Neuronal ceroid lipofuscinosis21Dec 31, 2020
Neuronal ceroid lipofuscinosis 15Mar 6, 2020
Neuronal ceroid lipofuscinosis 36Mar 6, 2020
Neuronal ceroid lipofuscinosis 54Mar 6, 2020
Neuronal ceroid lipofuscinosis 81May 13, 2020
Neutral 1 amino acid transport defect1Apr 29, 2020
Nicolaides-Baraitser syndrome1Mar 6, 2020
Niemann-Pick disease, type A13Dec 31, 2020
Niemann-Pick disease, type B5Jul 1, 2020
Niemann-Pick disease, type C24Dec 31, 2020
Nijmegen breakage syndrome-like disorder1Apr 24, 2019
Non-ketotic hyperglycinemia17Aug 6, 2020
Non-syndromic X-linked intellectual disability1Oct 22, 2020
Nonsyndromic Deafness1Mar 6, 2020
Noonan syndrome4Sep 24, 2019
Noonan syndrome 322Sep 24, 2019
Noonan syndrome with multiple lentigines2Mar 6, 2020
O'Donnell-Luria-Rodan syndrome1Mar 6, 2020
Obesity10Nov 17, 2015
Ornithine carbamoyltransferase deficiency11Nov 10, 2020
Osteochondrodysplasia15Nov 10, 2020
Osteogenesis imperfecta64Sep 24, 2019
Osteopetrosis4Aug 6, 2020
Osteoporosis with pseudoglioma1Nov 17, 2015
POLR3-related leukodystrophy1Mar 6, 2020
PTEN hamartoma tumor syndrome1Dec 31, 2020
Palmoplantar keratoderma-deafness syndrome1Jan 25, 2018
Parathyroid carcinoma1Apr 24, 2019
Pendred syndrome1Apr 29, 2020
Peroxisome biogenesis disorders, Zellweger syndrome spectrum53Dec 31, 2020
Peutz-Jeghers syndrome8Dec 2, 2020
Phenylketonuria114Dec 31, 2020
Pheochromocytoma2Aug 18, 2011
Phosphoglycerate dehydrogenase deficiency1Jan 25, 2018
Pigmentary pallidal degeneration1Dec 2, 2020
Pili torti-deafness syndrome1Aug 6, 2020
Pituitary hormone deficiency, combined5Aug 18, 2011
Pneumothorax, primary spontaneous3Apr 24, 2019
Polyarteritis nodosa, childhoood-onset1Dec 2, 2020
Polyglandular autoimmune syndrome, type 118Dec 31, 2020
Pontoneocerebellar hypoplasia2Mar 6, 2020
Postmenopausal osteoporosis2Aug 18, 2011
Pretibial epidermolysis bullosa1Mar 6, 2020
Primary autosomal recessive microcephaly5Apr 29, 2020
Primary congenital glaucoma1Apr 29, 2020
Primary dilated cardiomyopathy8Nov 20, 2015
Primary familial hypertrophic cardiomyopathy56Dec 2, 2020
Primary hyperoxaluria17Dec 2, 2020
Primary hyperoxaluria, type II4Mar 6, 2020
Progressive familial intrahepatic cholestasis1Apr 29, 2020
Propionic acidemia25Dec 31, 2020
Pseudo-Hurler polydystrophy1Jan 25, 2018
Pyruvate dehydrogenase complex deficiency1Jan 25, 2018
Rasopathy71Dec 2, 2020
Renal carnitine transport defect20Sep 9, 2020
Renal hypodysplasia/aplasia 31Apr 29, 2020
Retinitis pigmentosa2Oct 6, 2020
Retinitis pigmentosa 591Jan 25, 2018
Rett syndrome36Oct 22, 2020
Rhizomelic chondrodysplasia punctata type 18Nov 10, 2020
Romano-Ward syndrome2Mar 6, 2020
Rubinstein-Taybi syndrome 11Mar 6, 2020
SHORT syndrome1Mar 6, 2020
SIM1-Related Disorders1Dec 2, 2020
Salla disease10Dec 2, 2020
Sandhoff disease13Dec 2, 2020
Sanfilippo syndrome16Nov 10, 2020
Schwannomatosis3Oct 6, 2020
Severe Combined Immune Deficiency8Dec 31, 2020
Severe X-linked myotubular myopathy1Dec 2, 2020
Severe combined immunodeficiency disease40Mar 6, 2020
Severe combined immunodeficiency due to ADA deficiency3Jan 25, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Mar 6, 2020
Severe myoclonic epilepsy in infancy6Jan 25, 2018
Short stature, brachydactyly, intellectual developmental disability, and seizures1Jul 1, 2020
Short stature, idiopathic, X-linked5Nov 17, 2015
Sialidosis3Apr 29, 2020
Sickle cell disease and related diseases1Mar 6, 2020
Sickle cell-Hemoglobin O Arab disease1Jan 25, 2018
Sjögren-Larsson syndrome12Sep 9, 2020
Skin creases, congenital symmetric circumferential, 21Apr 24, 2019
Skraban-Deardorff syndrome1Apr 29, 2020
Smith-Lemli-Opitz syndrome24Dec 31, 2020
Sotos syndrome 22Mar 6, 2020
Spastic paraplegia 46, autosomal recessive2Dec 31, 2020
Sphingomyelin/cholesterol lipidosis3Dec 2, 2020
Spinal muscular atrophy6Oct 6, 2020
Spinocerebellar ataxia 471Mar 6, 2020
Spinocerebellar ataxia type 51Mar 6, 2020
Spondylocostal dysostosis 1, autosomal recessive1Apr 24, 2019
Stargardt disease2Apr 29, 2020
Stickler syndrome1Apr 29, 2020
Supravalvar aortic stenosis1Dec 2, 2020
Tay-Sachs disease38Dec 2, 2020
Three M syndrome 21Mar 6, 2020
Thyroid dyshormonogenesis 61Apr 24, 2019
Trichothiodystrophy1Jul 1, 2020
Tuberous sclerosis syndrome2Apr 24, 2019
Turcot syndrome2Mar 6, 2020
Tyrosinemia type I13Nov 10, 2020
Usher Syndrome, Type III4Apr 24, 2019
Usher syndrome7Dec 2, 2020
Usher syndrome type 1F7Jul 1, 2020
Verheij syndrome1Mar 6, 2020
Very long chain acyl-CoA dehydrogenase deficiency18Dec 2, 2020
Von Hippel-Lindau syndrome58Nov 10, 2020
Wilson disease124Dec 31, 2020
Wiskott-Aldrich syndrome13Sep 9, 2020
X-Linked Lymphoproliferative Syndrome2Apr 24, 2019
X-linked agammaglobulinemia30Mar 6, 2020
X-linked severe combined immunodeficiency12Oct 6, 2020
X-linked severe congenital neutropenia1Dec 31, 2020
X-linked thrombocytopenia with normal platelets3Jan 25, 2018
Xeroderma pigmentosum26Dec 31, 2020
beta Thalassemia84Nov 10, 2020
not provided3134Nov 27, 2018
not specified9269Dec 31, 2020
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